Granzyme B gene polymorphism associated with subacute sclerosing panencephalitis.
Neuropediatrics
; 45(5): 309-13, 2014 Oct.
Article
en En
| MEDLINE
| ID: mdl-24875585
ABSTRACT
BACKGROUND:
Subacute sclerosing panencephalitis (SSPE) is a late complication of measles infection. Immune dysfunction related to genetic susceptibility has been considered in disease pathogenesis. A functional single nucleotide polymorphism (SNP) of granzyme B gene (GZMB) reported in several pathologies may also be involved in susceptibility to SSPE. PATIENTS ANDMETHODS:
An SNP (rs8192917, G â A, RâQ) was screened in 118 SSPE patients and 221 healthy controls (HC) by polymerase chain reaction-restriction fragment length polymorphism. Frequencies were compared between groups. In vitro production of GZMB was measured in controls with different genotypes.RESULTS:
The SNP had a minor allele (G) frequency of 0.22 in patients and 0.31 in controls. GG genotype was significantly less frequent in patients (odds ratio, 0.23). G allele carriers produced relatively higher levels of GZMB, when stimulated in vitro.CONCLUSION:
These findings implicate possible effect of this genetic polymorphism in susceptibility to SSPE which needs to be confirmed in bigger populations.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Panencefalitis Esclerosante Subaguda
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Predisposición Genética a la Enfermedad
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Polimorfismo de Nucleótido Simple
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Granzimas
Tipo de estudio:
Prognostic_studies
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Risk_factors_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Año:
2014
Tipo del documento:
Article